Fibrodysplasia Ossificans Progressiva (Stone Man Syndrome)

Journal of medical case reports
02 Dec, 2019 ,

Zakir Ali Shah et al report a case of a 10-year-old Pakistani boy brought by his parents to our institution. He had clinical and radiological features of fibrodysplasia ossificans progressive and presented with multiple painful lumps on his back due to hard masses and stiffness of his shoulders, neck, and left hip. He underwent surgical excision of left hip ossification followed by an exaggerated response in ossification with early disability. Radiological examination revealed widespread heterotopic ossification. All of his laboratory blood test results were normal.

Source
Full content

A 10-year-old Pakistani boy presented to our clinic in Pakistan with a 6-month history of pain and tender masses on the back, left arm, and left hip. Pain was insidious in onset and gradually worsened, causing difficulty in walking and decreased range of motion of shoulders and hips.

On examination, the patient had multiple swellings on his back, right shoulder, left hip, and left knee. Another hard mass was seen on the left arm, near the anterior fold of the armpit, and extending to the whole of the biceps. The mass was painful, but no warmth or inflammation was noted (Fig. 1). Palpation revealed tenderness of all visible masses and stiffness of all abdominal and paraspinal muscles. Abduction of both shoulders was restricted to 35 degrees on the left side and 10 degrees on the right side (Fig. 1).

He was not able to walk and squat in normal posture and had severe restricted range of motion of the left hip.

No appreciable lymphadenopathy was noted. The boy’s parents did not show any similar abnormalities in their physical examination.

Results of laboratory studies were normal. Genetic analysis testing could not be performed because of the parents’ financial issues. Conventional radiographs showed heterotopic ossification involving the spine, neck, shoulders, hips, and right knee

No history of local trauma was found at the beginning of the disease. The patient had no siblings and no family history of any disease.

Regarding the patient’s past history, his parents reported surgical intervention and excision of left hip ossification followed by temporary improvement in range of motion of the left hip. Regular follow-up was done at 2-month intervals, and follow-up x-ray showed exacerbation (flare-up) of ossification and again severe restricted range of motion of the left hip

The patient was initiated on symptomatic treatment, and his family was educated about the disease. Counseling was done, and prevention of trivial trauma was advised. Recently, in follow-up, it was noticed that his quality of life was improved over a previous visit. The patient will be followed clinically and radiologically.